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Nutritional issues in treating phenylketonuria

  • Advances and Challenges in PKU
  • Published:
Journal of Inherited Metabolic Disease

Abstract

A phenylalanine (Phe)-restricted diet is the mainstay of phenylketonuria (PKU) treatment, and, in recent years, the nutritional management of PKU has become more complex in order to optimize patients’ growth, development and diet compliance. Dietary restriction of Phe creates a diet similar to a vegan diet, and many of the nutritional concerns and questions applicable to vegans who wish to avoid animal products are also relevant to patients with PKU. Owing to their nutritional characteristics, breast milk and breastfeeding should be given greater consideration as a useful food in patients with PKU and in those with other inborn errors of metabolism. Further key issues for consideration include the quality of the available amino acid substitutes, the neurotrophic and neuroprotective effects of added long-chain polyunsaturated fatty acids (e.g. docosahexaenoic acid), micronutrient deficiencies, bone disease and antioxidant status. Long-term dietary guidance and monitoring of the nutritional status of patients with PKU should be part of a follow-up programme that continues for life.

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Abbreviations

AA:

arachidonic acid

DHA:

docosahexaenoic acid

Ig:

immunoglobulin

LCPUFA:

long-chain polyunsaturated fatty acid

LDL:

low-density lipoprotein

OMIM:

Online Mendelian Inheritance in Man database

Phe:

phenylalanine

PKU:

phenylketonuria

PUFA:

polyunsaturated fatty acid

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Acknowledgements

The authors take full responsibility for the content of this meeting report but thank Caudex Medical (supported by Serono Symposia International Foundation) for their assistance in editing this report and collating the comments of the authors and any other named contributors.

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Correspondence to François Feillet.

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Communicated by: Nenad Blau

Competing interest: None declared.

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Feillet, F., Agostoni, C. Nutritional issues in treating phenylketonuria. J Inherit Metab Dis 33, 659–664 (2010). https://doi.org/10.1007/s10545-010-9043-4

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